Citations for
1SMN1, SMN2, SNRNPM, U2AF2
hnRNP M facilitates exon 7 inclusion of SMN2 pre-mRNA in spinal muscular atrophy by targeting an enhancer on exon 7.
Cho S, Moon H, Loh TJ, Oh HK, Cho S, Choy HE, Song WK, Chun JS, Zheng X, Shen H.
Biochim Biophys Acta 1839(4):306-15. doi: 10.1016/j.bbagrm.2014.02.006. Epub 2014 Feb 15. 2014
2COPA, SMN1
Dilysine motifs in exon 2b of SMN protein mediate binding to the COPI vesicle protein α-COP and neurite outgrowth in a cell culture model of spinal muscular atrophy.
Custer SK, Todd AG, Singh NN, Androphy EJ.
Hum Mol Genet 22(20):4043-52. doi: 10.1093/hmg/ddt254. Epub 2013 May 31. 2013
3SMN1, TMEM41B
An SMN-dependent U12 splicing event essential for motor circuit function.
Lotti F, Imlach WL, Saieva L, Beck ES, Hao le T, Li DK, Jiao W, Mentis GZ, Beattie CE, McCabe BD, Pellizzoni L.
Cell 151(2):440-54. doi: 10.1016/j.cell.2012.09.012. 2012
4NAIP, SMA, SMA2, SMA3, SMA4, SMN1, SMN2
Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients.
Amara A, Adala L, Ben Charfeddine I, Mamaï O, Mili A, Lazreg TB, H'mida D, Amri F, Salem N, Boughammura L, Saad A, Gribaa M.
Eur J Paediatr Neurol 16(2):167-74. doi: 10.1016/j.ejpn.2011.07.007. Epub 2011 Aug 6. 2012
5SMN1, SMN2, TIA1
Alternative splicing in spinal muscular atrophy underscores the role of an intron definition model.
Singh NN, Singh RN.
RNA Biol 8(4). [Epub ahead of print] 2011
6SMN1
The survival of motor neuron (SMN) protein interacts with the mRNA-binding protein HuD and regulates localization of poly(A) mRNA in primary motor neuron axons.
Fallini C, Zhang H, Su Y, Silani V, Singer RH, Rossoll W, Bassell GJ.
J Neurosci. 31(10):3914-25. 2011
7GEMIN2, SMN1
Purification of the human SMN-GEMIN2 complex and assessment of its stimulation of RAD51-mediated DNA recombination reactions.
Takaku M, Tsujita T, Horikoshi N, Takizawa Y, Qing Y, Hirota K, Ikura M, Ikura T, Takeda S, Kurumizaka H.
Biochemistry 50(32):6797-805. Epub 2011 Jul 25. 2011
8SMA, SMN1
A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy.
Vezain M, Gérard B, Drunat S, Funalot B, Fehrenbach S, N'guyen-Viet V, Vallat JM, Frébourg T, Tosi M, Martins A, Saugier-Veber P.
Hum Mutat um Mutat. 2011 May 3. doi: 10.1002/humu.21528. [Epub ahead of print] 2011
9PFN2, ROCK1, SMA, SMN1
The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilin.
Nölle A, Zeug A, van Bergeijk J, Tönges L, Gerhard R, Brinkmann H, Al Rayes S, Hensel N, Schill Y, Apkhazava D, Jablonka S, O'mer J, Srivastav RK, Baasner A, Lingor P, Wirth B, Ponimaskin E, Niedenthal R, Grothe C, Claus P.
Hum Mol Genet 20(24):4865-78. doi: 10.1093/hmg/ddr425. Epub 2011 Sep 14. 2011
10SMN1, SMNDC1
Structural basis for dimethylarginine recognition by the Tudor domains of human SMN and SPF30 proteins.
Tripsianes K, Madl T, Machyna M, Fessas D, Englbrecht C, Fischer U, Neugebauer KM, Sattler M.
Nat Struct Mol Biol 18(12):1414-20. doi: 10.1038/nsmb.2185. 2011
11ELK1, SMN1
ETS-domain transcription factor Elk-1 mediates neuronal survival: SMN as a potential target.
Demir O, Aysit N, Onder Z, Turkel N, Ozturk G, Sharrocks AD, Kurnaz IA.
Biochim Biophys Acta 1812(6):652-62. doi: 10.1016/j.bbadis.2011.02.012. Epub 2011 Mar 17. 2011
12DDX20, GEMIN2, GEMIN6, GEMIN7, SMN1, SMN2
SMN and the Gemin proteins form sub-complexes that localise to both stationary and dynamic neurite granules.
Todd AG, Shaw DJ, Morse R, Stebbings H, Young PJ.
Biochem Biophys Res Commun 394(1):211-6. Epub 2010 Feb 25. 2010
13SMN1, SMN2
Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?
Burghes AH, Beattie CE.
Nat Rev Neurosci. 10(8):597-609. 2009
14NAIP, SMN1
Deletion analysis of SMN1 and NAIP genes in Southern Chinese children with spinal muscular atrophy.
Liang YH, Chen XL, Yu ZS, Chen CY, Bi S, Mao LG, Zhou BL, Zhang XN.
J Zhejiang Univ Sci B 10(1):29-34. 2009
15SMN1
Deletion of smn-1, the Caenorhabditis elegans ortholog of the spinal muscular atrophy gene, results in locomotor dysfunction and reduced lifespan.
Briese, M.; Esmaeili, B.; Fraboulet, S.; Burt, E. C.; Christodoulou, S.; Towers, P. R.; Davies, K. E.; Sattelle, D. B.
Hum. Molec. Genet. 18: 97-104 2009
16SMN1
Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation.
Meyer, K.; Marquis, J.; Trub, J.; Nlend Nlend, R.; Verp, S.; Ruepp, M.-D.; Imboden, H.; Barde, I.; Trono, D.; Schumperli, D.
Hum. Molec. Genet. 18: 546-555 2009
17SMN1
Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy.
Rose, F. F., Jr.; Mattis, V. B.; Rindt, H.; Lorson, C. L.
Hum. Molec. Genet. 18: 997-1005 2009
18SMA, SMN1, SMN2
Unaffected patients with a homozygous absence of the SMN1 gene.
Jedrzejowska M, Borkowska J, Zimowski J, Kostera-Pruszczyk A, Milewski M, Jurek M, Sielska D, Kostyk E, Nyka W, Zaremba J, Hausmanowa-Petrusewicz I.
Eur J Hum Genet 16(8):930-4. Epub 2008 Mar 12. 2008
19KHSRP, SMA, SMN1
KH-type splicing regulatory protein interacts with survival motor neuron protein and is misregulated in spinal muscular atrophy.
Tadesse H, Deschnes-Furry J, Boisvenue S, C™tŽ J.
Hum Mol Genet 17(4):506-24. Epub 2007 Nov 12. 2008
20SMA, SMN1
Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy.
Brichta L, Garbes L, Jedrzejowska M, Grellscheid SN, Holker I, Zimmermann K, Wirth B.
Hum Genet 123(2):141-53. Epub 2008 Jan 3. 2008
21SMN1, SMA
Congenital heart defects in spinal muscular atrophy type I: a clinical report of two siblings and a review of the literature.
Menke LA, Poll-The BT, Clur SA, Bilardo CM, van der Wal AC, Lemmink HH, Cobben JM.
Am J Med Genet A 146(6):740-4. Review. 2008
22PLS3, SMN1
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy.
Oprea GE, Kr�er S, McWhorter ML, Rossoll W, M�ler S, Krawczak M, Bassell GJ, Beattie CE, Wirth B.
Science 320(5875):524-7. 2008
23SMN1
SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing.
Zhang Z, Lotti F, Dittmar K, Younis I, Wan L, Kasim M, Dreyfuss G.
Cell 133(4):585-600. 2008
24SMA, SMN1, SMN2
Congenital heart disease is a feature of severe infantile spinal muscular atrophy.
Rudnik-Schöneborn S, Heller R, Berg C, Betzler C, Grimm T, Eggermann T, Eggermann K, Wirth R, Wirth B, Zerres K.
J Med Genet 45(10):635-8. Epub 2008 Jul 28. 2008
25SMN1
In vitro and in cellulo evidences for association of the survival of motor neuron complex with the fragile X mental retardation protein.
Piazzon, N.; Rage, F.; Schlotter, F.; Moine, H.; Branlant, C.; Massenet, S.
J Biol Chem. 283: 5598-5610 2008
26SMN1, SMN2
Genetic conversion of an SMN2 gene to SMN1: a novel approach to the treatment of spinal muscular atrophy.
DiMatteo D, Callahan S, Kmiec EB.
Exp Cell Res 314(4):878-86. Epub 2007 Oct 24.PMID: 18078930 2008
27ACMN, SMA, SMA2, SMA3, SMA4, SMN1, SMN2
Spinal muscular atrophy diagnostics.
Prior TW.
J Child Neurol 22(8):952-6. Review. 2007
28ACMN, SMA, SMA2, SMA3, SMA4, SMN1, SMN2
Spinal muscular atrophy: clinical classification and disease heterogeneity.
Russman BS.
J Child Neurol 22(8):946-51. Review. 2007
29SMN1
Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis.
Setola V, Terao M, Locatelli D, Bassanini S, Garattini E, Battaglia G.
Proc Natl Acad Sci U S A 104(6):1959-64. Epub 2007 Jan 29. 2007
30SMN1
Targeting of SMN to Cajal bodies is mediated by self-association.
Morse R, Shaw DJ, Todd AG, Young PJ.
Hum Mol Genet 16(19):2349-58. Epub 2007 Jul 17. 2007
31SMN1, SOD1, HFE, APEX1, ANG
Genetics of sporadic amyotrophic lateral sclerosis.
Schymick JC, Talbot K, Traynor BJ.
Hum Mol Genet 16 Spec No 2:R233-42. 2007
32NAIP, SMA, SMN1
Molecular analysis of the SMN1 and NAIP genes in Iranian patients with spinal muscular atrophy.
Derakhshandeh-Peykar P, Esmaili M, Ousati-Ashtiani Z, Rahmani M, Babrzadeh F, Farshidi S, Attaran E, Sajedifar MM, Farhud DD.
Ann Acad Med Singapore 36(11):937-41. 2007
33SMN1, SMN2, SMA
Determinants of Exon 7 Splicing in the Spinal Muscular Atrophy Genes, SMN1 and SMN2.
Cartegni L, Hastings ML, Calarco JA, Stanchina E, Krainer AR.
Am J Hum Genet 78(1):63-77. Epub 2005 Nov 16. 2006
34SMA, SMN1, ZPR1
Deficiency of the zinc finger protein ZPR1 causes neurodegeneration.
Doran B, Gherbesi N, Hendricks G, Flavell RA, Davis RJ, Gangwani L.
Proc Natl Acad Sci U S A 103(19):7471-5. Epub 2006 Apr 28. 2006
35SMN1, GEMIN8
Gemin8 is a novel component of the survival motor neuron complex and functions in small nuclear ribonucleoprotein assembly.
Carissimi C, Saieva L, Baccon J, Chiarella P, Maiolica A, Sawyer A, Rappsilber J, Pellizzoni L.
J Biol Chem 281(12):8126-34. Epub 2006 Jan 24. 2006
36SMA3, SMA4, SMN1, SMN2
Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number.
Wirth B, Brichta L, Schrank B, LochmŸller H, Blick S, Baasner A, Heller R.
Hum Genet 119(4):422-8. Epub 2006 Mar 1. 2006
37SMN1
SMN1 gene, but not SMN2, is a risk factor for sporadic ALS.
Corcia P, Camu W, Halimi JM, Vourc'h P, Antar C, Vedrine S, Giraudeau B, de Toffol B, Andres CR; French ALS Study Group.
Neurology 67(7):1147-50. Epub 2006 Aug 23. 2006
38SMN1, SMN2
SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN.
Le TT, Pham LT, Butchbach ME, Zhang HL, Monani UR, Coovert DD, Gavrilina TO, Xing L, Bassell GJ, Burghes AH.
Hum Mol Genet 14(6):845-57. Epub 2005 Feb 9. 2005
39SMA, SMN1
Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene.
Eggermann T, Zerres K, Anhuf D, Kotzot D, Fauth C, Rudnik-Schoneborn S.
Eur J Hum Genet 13(3):309-13. 2005
40SMN1
A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levels.
Wolstencroft EC, Mattis V, Bajer AA, Young PJ, Lorson CL.
Hum Mol Genet 14(9):1199-210. Epub 2005 Mar 24. 2005
41SMN1, STRAP
Unrip, a factor implicated in cap-independent translation, associates with the cytosolic SMN complex and influences its intracellular localization.
Grimmler M, Otter S, Peter C, Muller F, Chari A, Fischer U.
Hum Mol Genet 14(20):3099-111. Epub 2005 Sep 13. 2005
42SMN1
The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation.
Gabanella F, Carissimi C, Usiello A, Pellizzoni L.
Hum Mol Genet 14(23):3629-42. Epub 2005 Oct 19. 2005
43PRMT5, SMN1
Toward an assembly line for U7 snRNPs: interactions of U7-specific Lsm proteins with PRMT5 and SMN complexes.
Azzouz TN, Pillai RS, Dapp C, Chari A, Meister G, Kambach C, Fischer U, Schumperli D.
J Biol Chem 280(41):34435-40. Epub 2005 Aug 8. 2005
44SMN1,SMN2
SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS.
Veldink JH, Kalmijn S, Van der Hout AH, Lemmink HH, Groeneveld GJ, Lummen C, Scheffer H, Wokke JH, Van den Berg LH.
Neurology 65(6):820-5. Epub 2005 Aug 10. 2005
45SMN1
Regular exercise prolongs survival in a type 2 spinal muscular atrophy model mouse.
Grondard, C.; Biondi, O.; Armand, A.-S.; Lecolle, S.; Della Gaspera, B.; Pariset, C.; Li, H.; Gallien, C.-L.; Vidal, P.-P.; Chanoine, C.; Charbonnier, F.
J Neurosci. 25: 7615-7622 2005
46SMN1
A role for complexes of survival of motor neurons (SMN) protein with gemins and profilin in neurite-like cytoplasmic extensions of cultured nerve cells.
Sharma A, Lambrechts A, Hao le T, Le TT, Sewry CA, Ampe C, Burghes AH, Morris GE.
Exp Cell Res. 309(1):185-97. 2005
47SMN1, SMN2
Survival motor neuron SMN1 and SMN2 gene promoters: identical sequences and differential expression in neurons and non-neuronal cells.
Boda B, Mas C, Giudicelli C, Nepote V, Guimiot F, Levacher B, Zvara A, Santha M, LeGall I, Simonneau M.
Eur J Hum Genet 12(9):729-37. 2004
48SMN1
Congenital club foot with survival of motor neuron 1, telomeric (SMN1) gene deletion.
Echenne B, Rivier F, Roubertie A, Carson NL.
J Child Neurol 19(3):212-3. 2004
49SMN1
The Epstein-Barr virus nuclear antigen-6 protein co-localizes with EBNA-3 and survival of motor neurons protein.
Krauer KG, Buck M, Belzer DK, Flanagan J, Chojnowski GM, Sculley TB.
Virology 318(1):280-94. 2004
50ALS1, ALS2, ALS3, ALS4, ALS5, ALS6, ALS7, ALS8, NEFH, VEGFA, SMN1, SMN2, SLC1A2, GRIA2
Complex genetics of amyotrophic lateral sclerosis.
Kunst CB.
Am J Hum Genet 75(6):933-47. Epub 2004 Oct 11. No abstract available. 2004
51SIN3A, SMN1
Survival motor neuron (SMN) protein interacts with transcription corepressor mSin3A.
Zou J, Barahmand-pour F, Blackburn ML, Matsui Y, Chansky HA, Yang L.
J Biol Chem 279(15):14922-8. Epub 2004 Jan 28. 2004
52SMN1, SMA4
Gene conversion events in adult-onset spinal muscular atrophy.
Mazzei R, Gambardella A, Conforti FL, Magariello A, Patitucci A, Gabriele AL, Sprovieri T, Labate A, Valentino P, Bono F, Bonavita S, Zappia M, Muglia M, Quattrone A.
Acta Neurol Scand 109(2):151-4. 2004
53SMN1
Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress.
Hua Y, Zhou J.
Biochem Biophys Res Commun. 314(1):268-76. 2004
54SMN1
Protein phosphatase 4 interacts with the Survival of Motor Neurons complex and enhances the temporal localisation of snRNPs.
Carnegie GK, Sleeman JE, Morrice N, Hastie CJ, Peggie MW, Philp A, Lamond AI, Cohen PT.
J Cell Sci. 116(Pt 10):1905-13. 2003
55SMN1
Neuromuscular defects in a Drosophila survival motor neuron gene mutant.
Chan YB, Miguel-Aliaga I, Franks C, Thomas N, Trülzsch B, Sattelle DB, Davies KE, van den Heuvel M.
Hum. Molec. Genet. 12: 1367-1376 2003
56SMN1
Therapeutic benefits of cardiotrophin-1 gene transfer in a mouse model of spinal muscular atrophy.
Lesbordes, J.-C.; Cifuentes-Diaz, C.; Miroglio, A.; Joshi, V.; Bordet, T.; Kahn, A.; Melki, J.
Hum. Molec. Genet. 12: 1233-1239 2003
57GEMIN5, SMN1
Gemin5, a novel WD repeat protein component of the SMN complex that binds Sm proteins.
Gubitz AK, Mourelatos Z, Abel L, Rappsilber J, Mann M, Dreyfuss G.
J Biol Chem 277(7):5631-6. 2002
58GEMIN6, SMN1
Purification of native survival of motor neurons complexes and identification of Gemin6 as a novel component.
Pellizzoni L, Baccon J, Rappsilber J, Mann M, Dreyfuss G.
J Biol Chem 277(9):7540-5. 2002
59NCL, NPM1, SMN1
A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy.
Lefebvre S, Burlet P, Viollet L, Bertrandy S, Huber C, Belser C, Munnich A.
Hum Mol Genet 11(9):1017-27. 2002
60SMN1, SNUPN, ZPR1
SMN, the spinal muscular atrophy protein, forms a pre-import snRNP complex with snurportin1 and importin beta.
Narayanan U, Ospina JK, Frey MR, Hebert MD, Matera AG.
Hum Mol Genet 11(15):1785-95. 2002
61SMN1
The SMN complex is associated with snRNPs throughout their cytoplasmic assembly pathway.
Massenet S, Pellizzoni L, Paushkin S, Mattaj IW, Dreyfuss G.
Mol Cell Biol 22(18):6533-41. 2002
62GEMIN7, SMN1
Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex.
Baccon J, Pellizzoni L, Rappsilber J, Mann M, Dreyfuss G.
J Biol Chem 277(35):31957-62. Epub 2002 Jun 13. 2002
63GAR1, SMN1, SMN2
Determinants of the interaction of the spinal muscular atrophy disease protein SMN with the dimethylarginine-modified box H/ACA small nucleolar ribonucleoprotein GAR1.
Whitehead SE, Jones KW, Zhang X, Cheng X, Terns RM, Terns MP.
J Biol Chem 277(50):48087-93. Epub 2002 Sep 19. 2002
64SMN1
Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons?
Rossoll W, Kröning AK, Ohndorf UM, Steegborn C, Jablonka S, Sendtner M.
Hum. Molec. Genet. 11(1):93-105. 2002
65SMN1
A direct interaction between the survival motor neuron protein and p53 and its relationship to spinal muscular atrophy.
Young PJ, Day PM, Zhou J, Androphy EJ, Morris GE, Lorson CL.
J Biol Chem. 277(4):2852-9. 2002
66SMN1
Involvement of survival motor neuron (SMN) protein in cell death.
Vyas, S.; Bechade, C.; Riveau, B.; Downward, J.; Triller, A.
Hum. Molec. Genet. 11: 2751-2764 2002
67SMA, SMN1
Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype.
Sossi V, Giuli A, Vitali T, Tiziano F, Mirabella M, Antonelli A, Neri G, Brahe C.
Eur J Hum Genet 9(2):113-20. 2001
68SMA, SMN1
Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome.
Mailman MD, Hemingway T, Darsey RL, Glasure CE, Huang Y, Chadwick RB, Heinz JW, Papp AC, Snyder PJ, Sedra MS, Schafer RW, Abuelo DN, Reich EW, Theil KS, Burghes AH, de la Chapelle A, Prior TW.
Hum Genet 108(2):109-15. 2001
69FGD1, GEMIN2, SMN1
Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy.
Jablonka S, Bandilla M, Wiese S, Buhler D, Wirth B, Sendtner M, Fischer U.
Hum Mol Genet 10(5):497-505. 2001
70SMN1, ZPR1
Spinal muscular atrophy disrupts the interaction of ZPR1 with the SMN protein.
Gangwani L, Mikrut M, Theroux S, Sharma M, Davis RJ.
Nat Cell Biol 3(4):376-83. 2001
71SMN1, SMN2
The SMN genes are subject to transcriptional regulation during cellular differentiation.
Germain-Desprez D, Brun T, Rochette C, Semionov A, Rouget R, Simard LR.
Gene 279(2):109-17. 2001
72OSTF1, SMN1
Osteoclast-stimulating factor interacts with the spinal muscular atrophy gene product to stimulate osteoclast formation.
Kurihara N, Menaa C, Maeda H, Haile DJ, Reddy SV.
J Biol Chem 276(44):41035-9. Epub 2001 Sep 10. 2001
73SMN1
Coilin forms the bridge between Cajal bodies and SMN, the spinal muscular atrophy protein.
Hebert MD, Szymczyk PW, Shpargel KB, Matera AG.
Genes Dev. 15(20):2720-9. 2001
74SMN1
A functional interaction between the survival motor neuron complex and RNA polymerase II.
Pellizzoni L, Charroux B, Rappsilber J, Mann M, Dreyfuss G.
J Cell Sci. 152(1):75-85. 2001
75GAR1, SMN1, SMN2
The survival of motor neurons (SMN) protein interacts with the snoRNP proteins fibrillarin and GAR1.
Pellizzoni L, Baccon J, Charroux B, Dreyfuss G.
Curr Biol 11(14):1079-88. 2001
76SMN1
SMN interacts with a novel family of hnRNP and spliceosomal proteins.
Mourelatos Z, Abel L, Yong J, Kataoka N, Dreyfuss G.
EMBO J. 20(19):5443-52. 2001
77SMN1
A cell system with targeted disruption of the SMN gene: functional conservation of the SMN protein and dependence of Gemin2 on SMN.
Wang J, Dreyfuss G.
J Biol Chem. 276(13):9599-605 2001
78SMN1, SMN2
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy.
Monani UR, Sendtner M, Coovert DD, Parsons DW, Andreassi C, Le TT, Jablonka S, Schrank B, Rossol W, Prior TW, Morris GE, Burghes AH.
Hum Mol Genet 9(3):333-9 2000
79SMN1, SMN2
Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type III.
Jablonka S, Schrank B, Kralewski M, Rossoll W, Sendtner M.
Hum Mol Genet 9(3):341-6 2000
80SMN1
An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN.
Lorson CL, Androphy EJ.
Hum Mol Genet 9(2):259-65. 2000
81BDP1, NAIP, CDK7, SMN1, SMN2
Evolutionary divergence of the mouse and human Lgn1/SMA repeat structures.
Growney JD, Scharf JM, Kunkel LM, Dietrich WF.
Genomics 64(1):62-81. 2000
82SMN1
Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy.
Frugier T, Tiziano FD, Cifuentes-Diaz C, Miniou P, Roblot N, Dierich A, Le Meur M, Melki J.
Hum Mol Genet 9(5):849-58. 2000
83DDX20, SMN1
Direct interaction of Smn with dp103, a putative RNA helicase: a role for Smn in transcription regulation?
Campbell L, Hunter KM, Mohaghegh P, Tinsley JM, Brasch MA, Davies KE.
Hum Mol Genet 9(7):1093-100. 2000
84SMA, SMN1
The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding.
Young PJ, Man NT, Lorson CL, Le TT, Androphy EJ, Burghes AH, Morris GE.
Hum Mol Genet 9(19):2869-77. 2000
85SMN1
The survival motor neuron protein interacts with the transactivator FUSE binding protein from human fetal brain.
Williams BY, Hamilton SL, Sarkar HK.
FEBS Lett. 470(2):207-10. 2000
86SMN1
Specific sequences of the Sm and Sm-like (Lsm) proteins mediate their interaction with the spinal muscular atrophy disease gene product (SMN).
Friesen WJ, Dreyfuss G.
J Biol Chem. 275(34):26370-5. 2000
87SMN1
A mouse model for spinal muscular atrophy.
Hsieh-Li, H. M.; Chang, J.-G.; Jong, Y.-J.; Wu, M.-H.; Wang, N. M.; Tsai, C. H.; Li, H.
Nature Genet. 24: 66-70 2000
88SMN1
Subcellular localization and axonal transport of the survival motor neuron (SMN) protein in the developing rat spinal cord.
Pagliardini, S.; Giavazzi, A.; Setola, V.; Lizier, C.; Di Luca, M.; DeBiasi, S.; Battaglia, G.
Hum. Molec. Genet. 9: 47-56 2000
89SMN1
Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling.
Wirth B, et al.
Am J Hum Genet 64(5):1340-56. 1999
90SMN1
The promoters of the survival motor neuron gene (SMN) and its copy (SMNc) share common regulatory elements.
Echaniz-Laguna A, et al.
Am J Hum Genet 64(5):1365-70. 1999
91SMN@, SMN1, SMN2
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.
Monani UR, et al.
Hum Mol Genet 8(7):1177-1183. 1999
92SMN1
Identification of survival motor neuron as a transcriptional activator-binding protein.
Strasswimmer J, et al.
Hum Mol Genet 8(7):1219-1226. 1999
93SMN1
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy.
Lorson CL, et al.
Proc Natl Acad Sci U S A 96(11):6307-11. 1999
94SMN1
Analysis of mutations in the tudor domain of the survival motor neuron protein SMN.
Mohaghegh P, et al.
Eur J Hum Genet 7(5):519-25. 1999
95SMN1, SMN2
Promoter analysis of the human centromeric and telomeric survival motor neuron genes (SMNC and SMNT).
Monani UR, et al.
Biochim Biophys Acta 1445(3):330-6. 1999
96SMA, SMN1
SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins.
Pellizzoni L, et al.
Proc Natl Acad Sci U S A 96(20):11167-72 1999
97SERF1A, SERF1B, SMN1, SMN2, BDP1
Comparative sequence analysis of the mouse and human Lgn1/SMA interval.
Endrizzi M, Huang S, Scharf JM, Kelter AR, Wirth B, Kunkel LM, Miller W, Dietrich WF.
Genomics 60(2):137-51. 1999
98DDX20, SMN1
Characterization of DP103, a novel DEAD box protein that binds to the Epstein-Barr virus nuclear proteins EBNA2 and EBNA3C.
Grundhoff AT, Kremmer E, Tureci O, Glieden A, Gindorf C, Atz J, Mueller-Lantzsch N, Schubach WH, Grasser FA.
J Biol Chem 274(27):19136-44. 1999
99DDX20, SMN1
Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems.
Charroux B, Pellizzoni L, Perkinson RA, Shevchenko A, Mann M, Dreyfuss G.
J Cell Biol 147(6):1181-94. 1999
100PFN2, SMN1, SMN2
A role for polyproline motifs in the spinal muscular atrophy protein SMN. Profilins bind to and colocalize with smn in nuclear gems.
Giesemann T, Rathke-Hartlieb S, Rothkegel M, Bartsch JW, Buchmeier S, Jockusch BM, Jockusch H.
J Biol Chem 274(53):37908-14. 1999
101AMCSMA1, SMN1, SMN2
Prenatal onset spinal muscular atrophy.
MacLeod MJ, Taylor JE, Lunt PW, Mathew CG, Robb SA.
Eur J Paediatr Neurol 3(2):65-72. 1999
102SMN1
SMN oligomerization defect correlates with spinal muscular atrophy severity.
Lorson CL, Strasswimmer J, Yao JM, Baleja JD, Hahnen E, Wirth B, Le T, Burghes AH, Androphy EJ.
Nat Genet 19 : 63-66. 1998
103SMN1
The domain encoded by exon 2 of the survival motor neuron protein mediates nucleic acid binding.
Lorson CL, et al.
Hum Mol Genet 7 : 1269-1275. 1998
104SMN1, SMN2
Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy.
Taylor JE, Thomas NH, Lewis CM, Abbs SJ, Rodrigues NR, Davies KE, Mathew CG.
Eur J Hum Genet 6(5):467-74. 1998
105SMA, SMN1
The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy.
Burlet P, et al.
Hum Mol Genet 7 : 1927-1933. 1998
106SMN1
A novel function for SMN, the spinal muscular atrophy disease gene product, in Pre-mRNA splicing.
Pellizzoni L, Kataoka N, Charroux B, Dreyfuss G.
Cell 95 : 615-624. 1998
107SMA, SMN1
Intragenic telSMN mutations : frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.
Parsons DW, McAndrew PE, Iannaccone ST, Mendell JR, Burghes AH, Prior TW.
Am J Hum Genet 63 : 1712-1723. 1998
108NAIP, SMN1, SMN2, GTF2H2
Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP.
Chen Q, Baird SD, Mahadevan M, Besner-Johnston A, Farahani R, Xuan J, Kang X, Lefebvre C, Ikeda JE, Korneluk RG, MacKenzie AE.
Genomics 48(1):121-7. 1998
109SMA, SMN1
De novo deletions in spinal muscular atrophy : implications for genetic counselling.
Raclin V, et al.
J Med Genet 34 : 86-87. 1997
110SMA, SMN2, SMN1
Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy.
Schwartz M, et al.
Hum Mol Genet 6 : 99-104. 1997
111AMCSMA1, SMN1
Arthrogryposis due to infantile neuronal degeneration associated with deletion of the SMNT gene.
Bingham PM, Shen N, Rennert H, Rorke LB, Black AW, Marin-Padilla MM, Nordgren RE.
Neurology 49(3):848-51. 1997
112SMA, SMN1
Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).
Hahnen E, Schonling J, Rudnik-Schoneborn S, Raschke H, Zerres K, Wirth B.
Hum Mol Genet 6(5):821-5. 1997
113SMN1
SMN gene analysis of the spinal form of Charcot-Marie-Tooth disease.
Hanash A, Leguern E, Birouk N, Clermont O, Pouget J, Bouche P, Munnich A, Brice A, Melki J.
J Med Genet 34(6):507-8. 1997
114SMN1
Correlation between severity and SMN protein level in spinal muscular atrophy.
Lefebvre S, Burlet P, Liu Q, Bertrandy S, Clermont O, Munnich A, Dreyfuss G, Melki J.
Nat Genet 16(3):265-9. 1997
115SMA, SMN1, SMN2
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number.
McAndrew PE, Parsons DW, Simard LR, Rochette C, Ray PN, Mendell JR, Prior TW, Burghes AH.
Am J Hum Genet 60(6):1411-22. 1997
116NAIP, SMA, SMN1
A possible role of NAIP gene deletions in sex-related spinal muscular atrophy phenotype variation.
Novelli G, et al.
Neurogenetics 1 : 29-30. 1997
117SMA, SMN1
The survival motor neuron protein in spinal muscular atrophy.
Coovert DD, Le TT, McAndrew PE, Strasswimmer J, Crawford TO, Mendell JR, Coulson SE, Androphy EJ, Prior TW, Burghes AH.
Hum Mol Genet 6(8):1205-14. 1997
118SMA, SMN1
Extensive DNA deletion associated with severe disease alleles on spinal muscular atrophy homologues.
Wang CH, Carter TA, Das K, Xu J, Ross BM, Penchaszadeh GK, Gilliam TC.
Ann Neurol 42(1):41-9. 1997
119SMN1
Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos.
Schrank B, Gotz R, Gunnersen JM, Ure JM, Toyka KV, Smith AG, Sendtner M.
Proc Natl Acad Sci U S A 94(18):9920-5. 1997
120NAIP, SMA, SMN1
SMN(T) and NAIP mutations in Canadian families with spinal muscular atrophy (SMA): genotype/phenotype correlations with disease severity.
Simard LR, Rochette C, Semionov A, Morgan K, Vanasse M.
Am J Med Genet 72(1):51-8. 1997
121NAIP, SMA, SMN1
Molecular analysis of survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes of spinal muscular atrophy patients and their parents.
Chang JG, Jong YJ, Lin SP, Soong BW, Tsai CH, Yang TY, Chang CP, Wang WS.
Hum Genet 100(5-6):577-81 1997
122SMA, SMN1
Different entities of proximal spinal muscular atrophy within one family.
Wirth B, Tessarolo D, Hahnen E, Rudnik-Schoneborn S, Raschke H, Liguori M, Giacanelli M, Zerres K.
Hum Genet 100(5-6):676-80. 1997
123SMN1
Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region.
Korinthenberg R, Sauer M, Ketelsen UP, Hanemann CO, Stoll G, Graf M, Baborie A, Volk B, Wirth B, Rudnik-Schoneborn S, Zerres K.
Ann Neurol 42(3):364-8. 1997
124NAIP, SMA, SMN1
De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling.
Wirth B, Schmidt T, Hahnen E, Rudnik-Schoneborn S, Krawczak M, Muller-Myhsok B, Schonling J, Zerres K.
Am J Hum Genet 61(5):1102-11. 1997
125BCL2, SMN1
Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy.
Iwahashi H, et al.
Nature 390 : 413-417. 1997
126GEMIN2, SMN1
The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis.
Fischer U, Liu Q, Dreyfuss G.
Cell 90(6):1023-9 1997
127GEMIN2, SMN1
The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins.
Liu Q, Fischer U, Wang F, Dreyfuss G.
Cell 90(6):1013-21 1997
128SMN1
Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system.
Battaglia G, Princivalle A, Forti F, Lizier C, Zeviani M.
Hum. Molec. Genet. 6(11):1961-71. 1997
129SMA, SMN2, SMN1
Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family.
Zappata S, et al.
Hum Genet 97 : 315-318. 1996
130SMA, SMN2, SMN1
Gene deletions in spinal muscular atrophy.
Rodrigues NR, et al.
J Med Genet 33 : 93-96. 1996
131SMA, SMN2, SMN1
Characterization of survival motor neuron (SMN T) gene deletions in asymptomatic carriers of spinal muscular atrophy.
Wang CH, et al.
Hum Mol Genet 5 : 359-365. 1996
132D5F149S1, D5F149S2, D5F150S1, D5F150S2, SMA, SMN1, SMN2
Structure and organization of the human survival motor neurone (SMN) gene.
Burglen L, et al.
Genomics 32 : 479-482. 1996
133SMA, SMN2, SMN1
Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus.
Capon F, et al.
Hum Mutat 7 : 198-201. 1996
134SMA, SMN2, SMN1
Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.
Burlet P, et al.
J Med Genet 33 : 281-283. 1996
135SMA, SMN2, SMN1
Unusual molecular findings in autosomal recessive spinal muscular atrophy.
Matthijs G, et al.
J Med Genet 33 : 469-474. 1996
136SMA, SMN2, SMN1
A novel nuclear structure containing the survival of motor neurons protein.
Liu Q, et al.
EMBO J 15 : 3555-3565. 1996
137SMN2, SMN1
Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5.
Van der Steege G, et al.
Am J Hum Genet 59 : 834-838. 1996
138NAIP, SMA, SMN1, SMN2
Molecular analysis of SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype.
Velasco E, et al.
Hum Mol Genet 5 : 257-263. 1996
139SMN2, SMN1
Frequent DNA variant in exon 2a of the survival motor neuron gene (SMN) : a further possibility for distinguishing the two copies of the gene.
Hahnen ET, et al.
Hum Genet 98 : 122-123. 1996
140AMCNN, SMN1
Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.
Bürglen L, Amiel J, Viollet L, Lefebvre S, Burlet P, Clermont O, Raclin V, Landrieu P, Verloes A, Munnich A, Melki J.
J Clin Invest 98(5):1130-2. 1996
141SMA, SMN2, SMN1
Apparent autosomal recessive inheritance in families with proximal spinal muscular atrophy affecting individuals in two generations.
Rudnik-Schšneborn S, et al.
Am J Hum Genet 59 : 1163-1165. 1996
142SMA, SMN2, SMN1
Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy : new insights into molecular mechanisms responsible for the disease.
Hahnen E, et al.
Am J Hum Genet 59 : 1057-1065. 1996
143SMA, SMN1
An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype : further evidence for SMN as the primary SMA-determining gene.
Parsons DW, et al.
Hum Mol Genet 5 : 1727-1732. 1996
144SMA, SMN1
Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I.
Brahe C, et al.
Hum Mol Genet 5 : 1971-1976. 1996
145SMA, SMN1
Evidence for compound heterozygosity causing mild and severe forms of autosomal recessive spinal muscular atrophy.
Talbot K, et al.
J Med Genet 33 : 1019-1021. 1996
146SMA, SMN2, SMN1
Clinical and molecular genetic features of congenital spinal muscular atrophy.
Devriendt K, et al.
Ann Neurol 40 : 731-738. 1996
147NAIP, SMN1
The mouse region syntenic for human spinal muscular atrophy lies within the Lgn1 critical interval and contains multiple copies of Naip exon 5.
Scharf JM, et al.
Genomics 38 : 405-417. 1996
148SMA, SMN2, SMN1
FISH detection of chromosome polymorphism and deletions in the spinal muscular atrophy (SMA) region of 5q13.
Rajcan-Separovic E, et al.
Cytogenet Cell Genet 75 : 243-247. 1996
149SMN1, SMN2
Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5.
van der Steege G, Grootscholten PM, Cobben JM, Zappata S, Scheffer H, den Dunnen JT, van Ommen GJ, Brahe C, Buys CH.
Am J Hum Genet 59(4):834-8. 1996
150SMA, SMN2, SMN1
Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy.
Cobben JM, et al.
Am J Hum Genet 57 : 805-808. 1995
151SMA, SMN2, SMN1
Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals.
Hahnen E, Forkert R, Marke C, Rudnik-Schoneborn S, Schonling J, Zerres K, Wirth B.
Hum Mol Genet 4(10):1927-33. 1995
152SMA, SMN2, SMN1
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients.
Bussaglia E, et al.
Nat Genet 11 : 335-337. 1995
153SMA, SMN2, SMN1
Molecular basis of spinal muscular atrophy in Chinese.
Chang JG, et al.
Am J Hum Genet 57 : 1503-1505. 1995
154SMA, SMN2, SMN1
SMN gene deletions in adult-onset spinal muscular atrophy.
Clermont O, et al.
Lancet 346 : 1712-1713. 1995
155SMA, SMN2, SMN1
Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy.
Rodrigues NR, et al.
Hum Mol Genet 4 : 631-634. 1995
156SMA, SMN2, SMN1
Identification and characterization of a spinal muscular atrophy-determining gene.
Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L,Benichou B, Cruaud C, Millasseau P, Zeviani M, et al.
Cell 80(1):155-65. 1995
157SMN1, SMA2
Preservation of central motor conduction in patients with spinal muscular atrophy type II.
Imai T, Matsuya M, Matsumoto H, Ishikawa Y, Minami R.
Brain Dev 17(6):432-5. 1995
158SMA, SMA3, SMA4, SMN1, SMN2
Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy.
Brahe C, Servidei S, Zappata S, Ricci E, Tonali P, Neri G.
Lancet 346(8977):741-2. 1995
159SMA, SMN1, SMN2, D5F149S1, D5F149S2, D5F150S1, D5F150S2
De novo and inherited deletions of the 5q13 region in spinal muscular atrophies.
Melki J, et al.
Science 264 : 1474-1477. 1994
160GEMIN2, SMN1
Dissecting the energetics of an antibody-antigen interface by alanine shaving and molecular grafting.
Jin L, Wells JA.
Protein Sci 3(12):2351-7 1994
161SMA, SMN1
Complex repetitive arrangements of gene sequence in the candidate region of the spinal muscular atrophy gene in 5q13.
Theodosiou AM, Morrison KE, Nesbit AM, Daniels RJ, Campbell L, FrancisMJ, Christodoulou Z, Davies KE.
Am J Hum Genet 55(6):1209-17. 1994
162SMN1, SMA2
Spinal muscular atrophy type II. A separate genetic and clinical entity from type I (Werdnig-Hoffmann disease) and type 3 (Kugelberg-Welander disease).
Fried K, Emery AE.
Clin Genet 2(4):203-9. No abstract available. 1971
163SMA3, SMN1
Chronic spinal muscular atrophy in adults. 1. The Kugelberg-Welander syndrome.
Meadows JC, Marsden CD, Harriman DG.
J Neurol Sci 9(3):527-50. No abstract available. 1969